Variant (rsID / SNP)

rs111033630

rs111033630 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SH2D1A. Clinical significance in the table: Pathogenic.

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Reference-table entries

SH2D1APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq25
HGVS: NM_002351.5(SH2D1A):c.164G>T (p.Arg55Leu)
Allele change: Missense_R55L

Associated conditions / phenotypes

X-linked lymphoproliferative disease due to SH2D1A deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.